Anna M Boukina

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We describe the first three cases of classical, late-infantile, neuronal ceroid lipofuscinosis from Russia. All of the patients had seizures, myoclonia, cognitive deterioration, cerebellar and pyramidal signs and also optic atrophy. Parkinsonian features were observed in one case. Electroencephalogram, evoked potentials, fundoscopy and magnetic resonance(More)
Mutations in the GBA and SMPD1 genes, which lead to the development of lysosomal storage diseases, are high risk factors for Parkinson's disease and dementia with Lewy bodies. We screened the mutations in the GALC and CLN3 genes in patients with Parkinson's disease and control subjects. A heterozygous CLN3 mutation (del 1.02 kb) carrier with clinical(More)
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